Open AccessLate‐onset argininosuccinic aciduria in a 72‐year‐old man presenting with fatal hyperammonemia
Author(s) -
Leuger Laurent,
Dieu Xavier,
Chao de la Barca Juan Manuel,
Moriconi Mikael,
Halley Guillaume,
Donin de Rosière Xavier,
Reynier Pascal,
MirebeauPrunier Delphine,
Homedan Chadi
Publication year - 2021
Publication title -
jimd reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.412
H-Index - 25
ISSN - 2192-8312
DOI - 10.1002/jmd2.12251
Subject(s) - hyperammonemia , urea cycle , pediatrics , coma (optics) , medicine , argininosuccinate lyase , biology , genetics , arginine , physics , amino acid , optics
Argininosuccinate lyase deficiency (ASLD, MIM # 207900) is an inherited urea cycle disorder. There are mainly two clinical forms, an acute neonatal form which manifests as life‐threatening hyperammonemia, and a late‐onset form characterised by polymorphic neuro‐cognitive or psychiatric presentation with transient hyperammonemia episodes. Here, we report a late‐onset case of ASLD in a 72‐year‐old man carrying a homozygous pathogenic variant in the exon 16 of the ASL gene, presenting for the first time with fatal hyperammonemic coma. This case report shows the need to systematically carry out an ammonia assay when faced with an unexplained coma.